患有肯尼-卡菲综合征的母女：成人表型

IF 1.6 4区医学 Q3 GENETICS & HEREDITY

European journal of medical genetics Pub Date : 2024-04-27 DOI:10.1016/j.ejmg.2024.104943

L. Tonelli , M. Sanchini , A. Margutti , B. Buldrini , A. Superti-Furga , A. Ferlini , R. Selvatici , S. Bigoni

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引用次数: 0

摘要

肯尼-卡菲综合征（Kenny-Caffey Syndrome，KCS）是一种遗传综合征，其特征是生长迟缓伴身材矮小、皮质增厚和长骨髓质狭窄，以及甲状旁腺功能减退伴低钙血症。KCS和相关但更严重的骨颅骨硬化症是由FAM111A基因的单倍变异决定的。在这里，我们描述了一名 31 岁女性及其 56 岁的母亲因 FAM111A 单倍变异 p.Y511H 而导致的 KCS 表型，她是迄今所知年龄最大的患者之一。据我们所知，这也是为数不多的经分子证实的 KCS 母婴传播病例之一。

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Mother and daughter with Kenny-Caffey syndrome: the adult phenotype

Kenny-Caffey Syndrome (KCS) is a genetic syndrome characterized by growth retardation with short stature, cortical thickening and medullary stenosis of long bones, and hypoparathyroidism with hypocalcemia. KCS and the related but more severe condition osteocraniostenosis are determined by monoallelic variants in the FAM111A gene. Here we describe the KCS phenotype resulting from the monoallelic FAM111A variant p.Y511H in a 31-year-old woman and in her 56-year-old mother, who is one of the oldest affected individuals known so far. To our knowledge, it is also one of the few molecularly confirmed cases of a mother-to-child transmission of KCS.

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来源期刊

European journal of medical genetics 医学-遗传学

CiteScore

4.10

自引率

0.00%

发文量

193

审稿时长

66 days

期刊介绍： The European Journal of Medical Genetics (EJMG) is a peer-reviewed journal that publishes articles in English on various aspects of human and medical genetics and of the genetics of experimental models. Original clinical and experimental research articles, short clinical reports, review articles and letters to the editor are welcome on topics such as : • Dysmorphology and syndrome delineation • Molecular genetics and molecular cytogenetics of inherited disorders • Clinical applications of genomics and nextgen sequencing technologies • Syndromal cancer genetics • Behavioral genetics • Community genetics • Fetal pathology and prenatal diagnosis • Genetic counseling.